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Test ID BLOD0453 Smith-Lemli-Opitz Screen, Plasma

Useful For

Diagnosing Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

Specimen Type

Plasma


Necessary Information


Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Collection Container/Tube:

Preferred: Green top (sodium or lithium heparin)

Acceptable: Lavender top (EDTA), pearl white top (EDTA plasma gel), yellow top (ACD solution A or B)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions:

1. Centrifuge and aliquot plasma into plastic vial.

2. Send plasma frozen.


Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Specimen Minimum Volume

0.1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen (preferred) 92 days
  Refrigerated  28 days
  Ambient  14 days

Day(s) Performed

Tuesday, Friday

Report Available

3 to 7 days

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

Reporting Name

Smith-Lemli-Opitz Scrn, P

Reference Values

7-DEHYDROCHOLESTEROL

≤2.0 mg/L

 

8-DEHYDROCHOLESTEROL

≤0.3 mg/L

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

Forms

1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Sanford Laboratories - Sioux Falls/Rapid City Additional Information:

SANFORD LABORATORY INTERFACE BUILD INFORMATION

 Result Code    Result Code Description  
 13350  Interpretation
 26268  7-Dehydrocholesterol
 26269  8-Dehydrocholesterol
 13348  Reviewed By